Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied ocular motor function in 34 patients with motor neuron disease (MND) and in 18 age-matched controls. This included the latency, accuracy, and amplitude-velocity relationships of saccades. We also examined ocular pursuit, the slow phases of optokinetic nystagmus, and the ability to suppress the vestibulo-ocular reflex (VOR) with visual fixation of a head-mounted target. Five of the subjects with MND had pronounced parkinsonian features on neurologic examination. The nonparkinsonian MND subjects had normal ocular motor function for all measures. Most subjects suppressed the VOR completely. The parkinsonian-MND patients had impairment of both saccadic and pursuit eye movements, and one parkinsonian-MND patient with poor pursuit was unable to suppress the VOR. We conclude that ocular motor function is generally spared in MND. The occasional appearance of ocular motor dysfunction probably reflects the incidence of secondary abnormalities such as parkinsonism.
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PMID:Ocular motor function in motor neuron disease. 843 24

Oculomotor disorders have been considered to be one of the negative symptoms in motor neuron disease (MND). However, recently, ophthalmoplegia, abnormal Bell's phenomenon and disturbance of pursuit movement have been reported. We tried to evaluate 32 patients with MND (19 males and 13 females; age, 35 to 77 years; 52.4 +/- 10.1 years) by bedside examination and electro-oculography (EOG) using an eye tracking method. Twenty-three of them were classified as amyotrophic lateral sclerosis (ALS) and seven as bulbospinal muscular atrophy, and two were unclassified. One hundred healthy persons for bedside examination and twenty-two for EOG were investigated as controls. Findings by bedside examinations were as follows; 1) Slight limitations of upward only, up & downward and upward & horizontal gaze were observed in 5 cases (15.6%), 1 case (3.1%) and 1 case (3.1%), respectively. 2) Incomplete convergence was observed in 11 cases. (34.4%) 3) Horizontal gaze nystagmus was observed in 6 cases. (18.8%) 4) As regards the frequency of limitation of upward gaze and incomplete convergence, there were no statistically significant differences from those in controls. Electrooculographic results were: 1) square wave jerks (SWJs) were recorded in 3 cases. (9.4%) 2) Amplitude ratio of saccade was significantly higher in MND than that in controls with the risk less than 0.1%. 3) The degree of ocular dysmetria was significantly higher in MND than that in controls with the risk less than 0.5%. These abnormalities were not directly related to suffering period. Although the mechanism is not known, several reports of the effectiveness of thyrotropin releasing hormone (TRH) in ALS were recently published.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Analysis of oculomotor disorders in motor neuron disease]. 251 55

Two patients with amyotrophic lateral sclerosis proved postmortem had nystagmus in addition to typical clinical signs of motor neuron disease. The first patient had gaze-evoked rotatory nystagmus that was followed by horizontal nystagmus in the primary position with supranuclear paresis of horizontal gaze and upgaze. The second patient had rotatory nystagmus that was evoked by lateral gaze, with normal range of eye movements. Nystagmus is so rare in motor neuron disease that these observations may imply another disease, but postmortem examination did not provide any other explanation. These two cases add to the increasing evidence that motor neuron disease comprises a heterogeneous group of disorders.
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PMID:Nystagmus in motor neuron disease: clinicopathological study of two cases. 646 63

To determine whether there are oculomotor abnormalities in motor neuron disease (MND), electro-oculographic recordings were performed prospectively in 16 MND patients and the results compared with age-matched healthy controls. Parameters analysed included random and fixed saccades (latency, velocity and accuracy), smooth pursuit (gain, total harmonic distortion and number of saccadic intrusions) and optokinetic nystagmus (maximal and mean slow component velocity). Increased saccadic latencies and decreased smooth pursuit gain were the main alterations in the MND group. Correlation with clinical variables showed a positive relationship between smooth pursuit saccadic intrusions and the bulbar clinical score and the rate of progression and a lower optokinetic nystagmus maximal velocity in patients with pseudobulbar syndrome. Our results demonstrate the presence of subclinical supranuclear abnormalities in MND, and support the notion that MND is not merely a degeneration of the motor system.
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PMID:Oculomotor abnormalities in motor neuron disease. 826 53

A 30 months-old boy with Farber disease developed nystagmus 12 months after hematopoietic stem cell transplantation (HSCT). At 40 months, gait ataxia was evident, and brain MRI showed increased size of pericerebellar sulci and 4th ventricle. EMG showed denervation in the tongue and upper limb muscles, consistent with motor neuron disease. HSCT improves the peripheral manifestations of Farber disease, but may not prevent the progressive neurological deterioration.
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PMID:Nervous system involvement in Farber disease. 2637 51

Motor neuron disease (MND) represents a wide and heterogeneous expanding group of disorders involving the upper or lower motor neurons, mainly represented by amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, progressive muscular atrophy and progressive bulbar palsy. Primary motor neuronopathies are characterized by progressive degenerative loss of anterior horn cell motoneurons (lower motor neurons) or loss of giant pyramidal Betz cells (upper motor neurons). Despite its well-known natural history, pathophysiological and clinical characteristics for the most common MND, atypical clinical presentation and neurodegenerative mechanisms are commonly observed in rare clinical entities, so-called atypical variants of MND-ALS, including flail-leg syndrome, flail-arm syndrome, facial-onset sensory and motor neuronopathy (FOSMN), finger extension weakness and downbeat nystagmus (FEWDON-MND) and long-lasting and juvenile MND-ALS. Herein, we provide a review article presenting clinical, genetic, pathophysiological and neuroimaging findings of atypical variants of MND-ALS in clinical practice.
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PMID:Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology. 3084 10